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Melatonin ameliorates Slc26a2-associated chondrodysplasias by attenuating endoplasmic reticulum stress and apoptosis of chondrocytes

Genes & diseases, 2024-06, p.101350, Article 101350

2024

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Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction

Nauchno-prakticheskai͡a︡ revmatologii͡a, 2023-10, Vol.61 (5), p.608-617

2023

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Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias

European journal of medical genetics, 2022-10, Vol.65 (10), p.104595-104595, Article 104595

2022

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Targeting FGFR3 signaling and drug repurposing for the treatment of SLC26A2-related chondrodysplasia in mouse model

Journal of orthopaedic translation, 2024-01, Vol.44, p.88-101

2024

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Phenotypic characterization of Slc26a2 mutant mice reveals a multifactorial etiology of spondylolysis

The FASEB journal, 2020-01, Vol.34 (1), p.720-734

2020

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Role of NEAT1/MiR-9-5p/SLC26A2 Pathway on Human Airway Smooth Muscle Cell

Yonsei Medical Journal, 2021, 62(9), , pp.858-867

2021

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Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis

Orphanet journal of rare diseases, 2024-07, Vol.19 (1), p.245-11, Article 245

2024

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SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

Molecular syndromology, 2023-01, Vol.13 (6), p.485-495

2023

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BGN/TLR4/NF-κB Mediates Epigenetic Silencing of Immunosuppressive Siglec Ligands in Colon Cancer Cells

Cells (Basel, Switzerland), 2020-02, Vol.9 (2), p.397

2020

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Activation of the PKA signaling pathway stimulates oxalate transport by human intestinal Caco2-BBE cells

American Journal of Physiology: Cell Physiology, 2020-02, Vol.318 (2), p.C372-C379

2020

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Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias

EBioMedicine, 2019-02, Vol.40, p.695-709

2019

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SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature

Genes, 2021-05, Vol.12 (5), p.714

2021

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SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women

Balkan journal of medical genetics, 2023-05, Vol.25 (2), p.83-90

2023

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slc26a12—A novel member of the slc26 family, is located in tandem with slc26a2 in coelacanths, amphibians, reptiles, and birds

Physiological reports, 2024-06, Vol.12 (11), p.e16089-n/a

2024

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Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4

Genes, 2022-08, Vol.13 (9), p.1512

2022

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Solute Carrier Family 26 Member a2 (Slc26a2) Protein Functions as an Electroneutral SO42−/OH−/Cl− Exchanger Regulated by Extracellular Cl

The Journal of biological chemistry, 2012-02, Vol.287 (7), p.5122-5132

2012

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Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report

BMC medical genetics, 2018-05, Vol.19 (1), p.70-70, Article 70

2018

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Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes

European journal of medical genetics, 2019-11, Vol.62 (11), p.103573-103573, Article 103573

2019

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Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report

Clinical case reports, 2023-10, Vol.11 (10), p.e8028-n/a

2023

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Multiple SLC26A2 mutations occurring in a three-generational family

European journal of medical genetics, 2018-01, Vol.61 (1), p.24-28

2018

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SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)

Clinical genetics, 2015-03, Vol.87 (3), p.273-278

2015

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Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1630-n/a

2021

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Gezielte genetische Diagnostik nach Ersttrimester-Ultraschallscreening bei letaler fetaler Skelettdysplasie

Geburtshilfe und Frauenheilkunde, 2009-03, Vol.69 (3), p.244-247

2009

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Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations

Human mutation, 2002-05, Vol.19 (5), p.465-478

2002

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Melatonin ameliorates Slc26a2-associated chondrodysplasias by attenuating endoplasmic reticulum stress and apoptosis of chondrocytes

Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias

Targeting FGFR3 signaling and drug repurposing for the treatment of SLC26A2-related chondrodysplasia in mouse model

Phenotypic characterization of Slc26a2 mutant mice reveals a multifactorial etiology of spondylolysis

Role of NEAT1/MiR-9-5p/SLC26A2 Pathway on Human Airway Smooth Muscle Cell

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

BGN/TLR4/NF-κB Mediates Epigenetic Silencing of Immunosuppressive Siglec Ligands in Colon Cancer Cells

Activation of the PKA signaling pathway stimulates oxalate transport by human intestinal Caco2-BBE cells

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias

SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women

slc26a12—A novel member of the slc26 family, is located in tandem with slc26a2 in coelacanths, amphibians, reptiles, and birds

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4

Solute Carrier Family 26 Member a2 (Slc26a2) Protein Functions as an Electroneutral SO42−/OH−/Cl− Exchanger Regulated by Extracellular Cl

Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report

Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes

Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report

Multiple SLC26A2 mutations occurring in a three-generational family

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

Gezielte genetische Diagnostik nach Ersttrimester-Ultraschallscreening bei letaler fetaler Skelettdysplasie

Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations

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